Variant report

Variant	rs563431443
Chromosome Location	chr1:223566290-223566291
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr1:223566273-223566341	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:223566278-223566328	SK-N-SH_RA	brain:	n/a
2	chr1:223566278-223566328	NB4	blood:	n/a
3	chr1:223566278-223566328	HCT-116	colon:	n/a
4	chr1:223566278-223566328	GM12878	blood:	n/a
5	chr1:223566278-223566328	MCF-7	breast:	n/a
6	chr1:223566278-223566328	AG09319	gingival:	n/a
7	chr1:223566278-223566328	ECC-1	luminal epithelium:	n/a
8	chr1:223566278-223566328	SK-N-SH	brain:	n/a
9	chr1:223566278-223566328	PrEC	prostate:	n/a
10	chr1:223566278-223566328	NT2-D1	testis:	n/a
11	chr1:223566278-223566328	HCM	heart:	n/a
12	chr1:223566278-223566328	K562	blood:	n/a
13	chr1:223566278-223566328	HRE	kidney:	n/a
14	chr1:223566278-223566328	GM12892	blood:	n/a
15	chr1:223566278-223566328	U87	brain:	n/a
16	chr1:223566278-223566328	HAEpiC	amniotic membrane:	n/a
17	chr1:223566278-223566328	HEK293	kidney:	embryo
18	chr1:223566278-223566328	Caco-2	colon:	n/a
19	chr1:223566278-223566328	BJ	skin:	n/a
20	chr1:223566278-223566328	HRPEpiC	eye:	n/a
21	chr1:223566278-223566328	NHBE	bronchial:	n/a
22	chr1:223566278-223566328	Hela-S3	cervix:	n/a
23	chr1:223566278-223566328	A549	lung:	n/a
24	chr1:223566278-223566328	H1-hESC	embryonic stem cell:	embryo
25	chr1:223566278-223566328	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:223566278-223566328	AG04449	skin:	fetal
27	chr1:223566278-223566328	ProgFib	skin:	n/a
28	chr1:223566278-223566328	GM06990	blood:	n/a
29	chr1:223566278-223566328	AG04450	lung:	fetal
30	chr1:223566278-223566328	AG10803	skin:	n/a
31	chr1:223566278-223566328	NH-A	brain:	n/a
32	chr1:223566278-223566328	SK-N-MC	brain:	n/a
33	chr1:223566278-223566328	HCPEpiC	choroid plexus:	n/a
34	chr1:223566278-223566328	HIPEpiC	eye:	n/a
35	chr1:223566278-223566328	HCF	heart:	n/a
36	chr1:223566278-223566328	CMK	blood:	n/a
37	chr1:223566278-223566328	SAEC	small airway:	n/a
38	chr1:223566278-223566328	T-47D	breast:	n/a
39	chr1:223566278-223566328	Jurkat	blood:	n/a
40	chr1:223566278-223566328	MCF10A-Er-Src	breast:	n/a
41	chr1:223566278-223566328	PFSK-1	brain:	n/a
42	chr1:223566278-223566328	HL-60	blood:	n/a
43	chr1:223566278-223566328	HMEC	breast:	n/a
44	chr1:223566278-223566328	SKMC	muscle:	n/a
45	chr1:223566278-223566328	ovcar-3	ovarian:	n/a
46	chr1:223566278-223566328	GM19239	blood:	n/a
47	chr1:223566278-223566328	LNCaP	prostate:	n/a
48	chr1:223566278-223566328	PANC-1	pancreas:	n/a
49	chr1:223566278-223566328	IMR90	lung:	fetal
50	chr1:223566278-223566328	HNPCEpiC	eye:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223534957..223537393-chr1:223566287..223567830,2	MCF-7	breast:

No data

Variant related genes	Relation type
C1orf65	TF binding region
C1orf65	CpG island
ENSG00000143502	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv4687	chr1:223565080-223610362	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223566000-223567000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
2	chr1:223566200-223566400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
3	chr1:223566200-223566400	Enhancers	Esophagus	oesophagus
4	chr1:223566200-223566600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:223566200-223566600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:223566200-223566600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr1:223566200-223566600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr1:223566200-223566600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
9	chr1:223566200-223566800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:223566200-223566800	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr1:223566200-223567000	Bivalent Enhancer	Fetal Brain Male	brain
12	chr1:223566200-223567000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
13	chr1:223566200-223567200	Active TSS	Brain Anterior Caudate	brain
14	chr1:223566200-223567200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
15	chr1:223566200-223567200	Bivalent/Poised TSS	NHEK	skin

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